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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GLRA4 Gene

protein-coding GIFtS: 44
GCID: GC0XM102962

glycine receptor, alpha 4

Explore 4 diseases affiliated with
GLRA4 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Glycine Receptor, Alpha 4¹ ²
Glycine Receptor Subunit Alpha-4²

External Ids:	HGNC: 31715¹	Entrez Gene: 441509²	Ensembl: ENSG00000188828⁷	UniProtKB: Q5JXX5³

Export aliases for GLRA4 gene to outside databases

Previous GC identifers: GC0XM102779 GC0XU900745 GC0XM102849 GC0XM092619

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GLRA4:

This gene encodes a protein which has a neurotransmitter-gated ion-channel ligand binding domain. The encoded protein

is very similar to a mouse protein which is a subunit of the retinal glycine receptor. Multiple transcript variants

encoding different isoforms have been found for this gene. (provided by RefSeq, Aug 2011)

UniProtKB/Swiss-Prot: GLRA4_HUMAN, Q5JXX5

Function: The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases

the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing)

summary for GLRA4:

Glycine receptors (GlyR) are members of the cys-loop family of ligand-gated ion channels, responsible for

mediating the inhibitory effects of glycine. They are widely distributed throughout the CNS, particularly

within the hippocampus, spinal cord and brain stem. Glycine receptors exist as pentameric proteins,

homo-oligomers of the alpha isoforms (alpha1, alpha2, alpha3 or alpha4) or hetero-oligomers which also

contain the beta-subtype variant (beta1) which is essential for targeting the receptor to the synapse.

Glycine receptors contain an integral chloride channel, and have modulatory sites for anesthetics,

neurosteroids, cannabinoids and ethanol. Disruption in glycine receptor expression or ion channel function

can result in hyperekplexia, a rare neurological disorder.

Gene Wiki entry for GLRA4

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_011651.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GLRA4 gene promoter:
C/EBPbeta AML1a GATA-3 Lmo2 RORalpha2 GATA-1 GATA-2 S8 Sox9
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for GLRA4

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GLRA4

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq22.2 Ensembl cytogenetic band: Xq22.2 HGNC cytogenetic band: Xq22.2

GLRA4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GLRA4 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM102962: view genomic region (about GC identifiers)

Start:	102,962,152 bp from pter	End:	102,983,583 bp from pter
Size:	21,432 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: GLRA4_HUMAN, Q5JXX5 (See protein sequence)

Recommended Name: Glycine receptor subunit alpha-4 precursor

Size: 417 amino acids; 47728 Da

Subunit: Pentamer composed of alpha and beta subunits (By similarity)

Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane;

Multi-pass membrane protein (By similarity)

Miscellaneous: The alpha subunit binds strychnine (By similarity)

Caution: Is shorter at the N-terminus compared to its mouse ortholog due to the presence of a premature stop codon

Explore the universe of human proteins at neXtProt for GLRA4: NX_Q5JXX5

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q5JXX5

GLRA4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001019623.2 NP_001165756.1

ENSEMBL proteins:

ENSP00000361700 ENSP00000412480

Reactome Protein details: Q5JXX5
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Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005887	integral to plasma membrane	IEA	--
GO:0030054	cell junction	IEA	--
GO:0034707	chloride channel complex	IEA	--
GO:0045211	postsynaptic membrane	IEA	--

GLRA4 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

GLRA4 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR008127 Glycine_rcpt_A

IPR018000 Neurotransmitter_ion_chnl_CS

IPR006028 GABAA_rcpt

IPR006201 Neur_channel

IPR006202 Neur_chan_lig-bd

Graphical View of Domain Structure for InterPro Entry Q5JXX5

ProtoNet protein and cluster: Q5JXX5

UniProtKB/Swiss-Prot: GLRA4_HUMAN, Q5JXX5

Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRA4

sub-subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: GLRA4_HUMAN, Q5JXX5

Function: The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases

the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing)

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Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	--	--
GO:0005230	extracellular ligand-gated ion channel activity	IEA	--
GO:0005254	chloride channel activity	IEA	--
GO:0016594	glycine binding	IEA	--
GO:0022824	transmitter-gated ion channel activity	IEA	--

GLRA4 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

PKA activation in glucagon signalling

Neurophysiological process_PGE2-induced pain processing

0.44

Neurophysiological process PGE2-induced pain processing

0.44

Ion channel transport

Ion channel transport

1.00

SLC-mediated transmembrane transport

Transmembrane transport of small molecules

0.50

GABA A receptor activation

Ligand-gated ion channel transport

0.48

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for GLRA4

Neurophysiological process PGE2-induced pain processing

1 GeneGo (Thomson Reuters) Pathway for GLRA4

Neurophysiological process PGE2-induced pain processing

3 Reactome Pathways for GLRA4

	Ligand-gated ion channel transport
	Transmembrane transport of small molecules
	Ion channel transport

GLRA4 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for GLRA4

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for GLRA4 available from Tocris Bioscience About this table

Compound	Action	CAS #
beta-Alanine	Endogenous glycine agonist, more selective than taurine (Cat. No. 0209)	[107-95-9]
Strychnine hydrochloride	Competitive glycine receptor antagonist	[1421-86-9]
L-Serine	Weak endogenous glycine receptor agonist	[56-45-1]
Hypotaurine	Non-selective endogenous glycine receptor agonist	[300-84-5]
Glycine	Endogenous potentiator, co-transmitter	[56-40-6]

1 HMDB Compound for GLRA4 About this table

Compound	Synonyms	CAS #	PubMed Ids
Chlorine	Cl2 (see all 13)	16887-00-6	--

Search CenterWatch for drugs/clinical trials and news about GLRA4

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for GLRA4 gene (2 alternative transcripts):

NM_001024452.2 NM_001172285.1

Unigene Cluster for GLRA4:

Glycine receptor, alpha 4

Hs.533289 [show with all ESTs]

Unigene Representative Sequence: AK309010

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000372617(uc011mse.2) ENST00000436213 ENST00000480725(uc010nou.2)

ENST00000469567

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Additional cDNA sequence: AK309010.1

3 DOTS entries:

DT.102824979 DT.102824968 DT.121316229

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

GLRA4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACCACCCAGA

About this image

GLRA4 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See GLRA4 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.533289

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for GLRA4 gene from 5/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	GLRA4¹	glycine receptor, alpha 4	81.01(n) 90.21(a)		769706 XM_001232994.1 XP_001232995.1
lizard (Anolis carolinensis)	Reptilia	GLRA4⁶	--	78(a)	1 ↔ 1	GL343686.1(133596-142282)
zebrafish (Danio rerio)	Actinopterygii	glra4a¹	glycine receptor, alpha 4a	76.75(n) 87.8(a)		83413 NM_131782.1 NP_571857.1
fruit fly (Drosophila melanogaster)	Insecta	Rdl¹	Resistant to dieldrin	49.49(n) 42.42(a)		39054 NM_168322.2 NP_729462.2
worm (Caenorhabditis elegans)	Secernentea	lgc-38¹	Protein LGC-38	53.11(n) 46.1(a)		3565717 NM_066131.4 NP_498532.3

ENSEMBL Gene Tree for GLRA4 (if available)
TreeFam Gene Tree for GLRA4 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for GLRA4 gene

GLRA2² GABRR1² GLRB² GLRA1² GABRB1² GABRD² GABRP² GABRB2²

GABRQ² GABRB3² GLRA3² GABRR2²

18/24 SIMAP similar genes for GLRA4 using alignment to 2 protein entries: GLRA4_HUMAN (see all proteins) (see all similar genes):

GLRA2 GLRA3 GLRA1 GLRB GABRP GABRR2

GABRR1 GABRB1 GABRA2 DKFZp781L0846 GABRB2 GABRD

GABRA6 GABRA5 GABRB3 GABRA1 GABRA3 GABRQ

GLRA4 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs13440480^1,2	C,	--	92619222(+)	`CTCCCA/GCCCTA`	1	--	ds500¹		0	--	--	--	--
rs5945804^1,2	H	--	92620162(+)	`ACGCAG/TCTAGG`	1	--	int¹		4		NS EA	416
rs17331946^1,2	C,F,	--	92620755(+)	`CACAGG/AGTCTT`	1	--	int¹		3		NA	142
rs5987571^1,2	C,	--	92626982(+)	`gccccC/G/Taatgg`	1	--	int¹		0	--	--	--	--
rs111313975^1,2	C,	--	92627455(+)	`ACCCGG/AGAGGC`	1	--	int¹		1		WA	2
rs73524122^1,2	C,	--	92627928(+)	`TTCAGT/CTCTCA`	1	--	int¹		2		WA CSA	3
rs12116151^1,2	C,F,H,	--	92627976(+)	`CATCCC/TAGTCT`	1	--	int¹		11		NS EA NA WA CSA	1083
rs16984010^1,2	C,F,H,	--	92628670(+)	`CTGAGA/TCCCTT`	1	--	int¹		19	--	NA NS EA WA CSA	1827
rs73258087^1,2	C,	--	92628777(+)	`CTGACA/GAGAAG`	1	--	int¹		0	--	--	--	--
rs12390054^1,2	C,F,H,	--	92633302(+)	`GATCTC/ACCCTC`	2	--	int¹ trp³		5		NS EA CSA	405

HapMap Linkage Disequilibrium report for GLRA4 (102962152 - 102983583 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for GLRA4: --
Locus Specific Mutation Databases (LSDB): GLRA4

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

GLRA4 for disorders About GeneDecksing

4 diseases for GLRA4: About MalaCards

hyperekplexia retinitis pharyngitis neuronitis

Export disorders for GLRA4 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for GLRA4 gene integrated from 9 sources:
(articles sorted by number of sources associating them with GLRA4)

Utopia: connect your pdf to the dynamic
world of online information

The DNA sequence of the human X chromosome. (PubMed id 15772651)² Ross M.T.... Bentley D.R. (2005)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
The sequence of the human genome. (PubMed id 11181995)¹ Venter J.C.... Zhu X. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 441509	HGNC: 31715	Ensembl:ENSG00000188828	euGenes: HUgn441509	ECgene: GLRA4
H-InvDB: GLRA4

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for GLRA4	Pharmacogenomics, SNPs, Pathways

Intellectual Property for GLRA4 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for GLRA4 gene:
Search GeneIP for patents involving GLRA4

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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About This Section


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	Browse OriGene Antibodies		OriGene shRNA RFP for GLRA4
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat GLRA4
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	GenScript Custom Purified and Recombinant Proteins Services for GLRA4		GenScript cDNA clones with any tag delivered in your preferred vector for GLRA4
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	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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GLRA4 Gene

glycine receptor, alpha 4

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GLRA4 Gene

glycine receptor, alpha 4

Aliasesfor GLRA4 gene

Summariesfor GLRA4 gene

Genomic Viewsfor GLRA4 gene

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Protein Domains /Familiesfor GLRA4 gene

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for GLRA4 gene

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for GLRA4 gene

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for GLRA4 gene

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